Sequence of GBA2_HUMAN

glucosylceramidase

Q9HCG7

927

104649

802000

Matern H.,Boermans H.,Lottspeich F.,Matern S.

Molecular cloning and expression of human bile acid beta -glucosidase.

J. Biol. Chem.

276

37929-37933

2001

802001

Nagase T.,Kikuno R.,Nakayama M.,Hirosawa M.,Ohara O.

Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

DNA Res.

7

273-281

2000

802002

Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.

36

40-45

2004

802003

Bechtel S.,Rosenfelder H.,Duda A.,Schmidt C.P.,Ernst U.,Wellenreuther R.,Mehrle A.,Schuster C.,Bahr A.,Bloecker H.,Heubner D.,Hoerlein A.,Michel G.,Wedler H.,Koehrer K.,Ottenwaelder B.,Poustka A.,Wiemann S.,Schupp I.

The full-ORF clone resource of the German cDNA consortium.

BMC Genomics

8

399-399

2007

802004

Humphray S.J.,Oliver K.,Hunt A.R.,Plumb R.W.,Loveland J.E.,Howe K.L.,Andrews T.D.,Searle S.,Hunt S.E.,Scott C.E.,Jones M.C.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Ashwell R.I.S.,Babbage A.K.,Babbage S.,Bagguley C.L.,Bailey J.,Banerjee R.,Barker D.J.,Barlow K.F.,Bates K.,Beasley H.,Beasley O.,Bird C.P.,Bray-Allen S.,Brown A.J.,Brown J.Y.,Burford D.,Burrill W.,Burton J.,Carder C.,Carter N.P.,Chapman J.C.,Chen Y.,Clarke G.,Clark S.Y.,Clee C.M.,Clegg S.,Collier R.E.,Corby N.,Crosier M.,Cummings A.T.,Davies J.,Dhami P.,Dunn M.,Dutta I.,Dyer L.W.,Earthrowl M.E.,Faulkner L.,Fleming C.J.,Frankish A.,Frankland J.A.,French L.,Fricker D.G.,Garner P.,Garnett J.,Ghori J.,Gilbert J.G.R.,Glison C.,Grafham D.V.,Gribble S.,Griffiths C.,Griffiths-Jones S.,Grocock R.,Guy J.,Hall R.E.,Hammond S.,Harley J.L.,Harrison E.S.I.,Hart E.A.,Heath P.D.,Henderson C.D.,Hopkins B.L.,Howard P.J.,Howden P.J.,Huckle E.,Johnson C.,Johnson D.,Joy A.A.,Kay M.,Keenan S.,Kershaw J.K.,Kimberley A.M.,King A.,Knights A.,Laird G.K.,Langford C.,Lawlor S.,Leongamornlert D.A.,Leversha M.,Lloyd C.,Lloyd D.M.,Lovell J.,Martin S.,Mashreghi-Mohammadi M.,Matthews L.,McLaren S.,McLay K.E.,McMurray A.,Milne S.,Nickerson T.,Nisbett J.,Nordsiek G.,Pearce A.V.,Peck A.I.,Porter K.M.,Pandian R.,Pelan S.,Phillimore B.,Povey S.,Ramsey Y.,Rand V.,Scharfe M.,Sehra H.K.,Shownkeen R.,Sims S.K.,Skuce C.D.,Smith M.,Steward C.A.,Swarbreck D.,Sycamore N.,Tester J.,Thorpe A.,Tracey A.,Tromans A.,Thomas D.W.,Wall M.,Wallis J.M.,West A.P.,Whitehead S.L.,Willey D.L.,Williams S.A.,Wilming L.,Wray P.W.,Young L.,Ashurst J.L.,Coulson A.,Blocker H.,Durbin R.M.,Sulston J.E.,Hubbard T.,Jackson M.J.,Bentley D.R.,Beck S.,Rogers J.,Dunham I.

DNA sequence and analysis of human chromosome 9.

Nature

429

369-374

2004

802006

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

802008

Matern H.,Heinemann H.,Legler G.,Matern S.

Purification and characterization of a microsomal bile acid beta-glucosidase from human liver.

J. Biol. Chem.

272

11261-11267

1997

802009

Yildiz Y.,Matern H.,Thompson B.,Allegood J.C.,Warren R.L.,Ramirez D.M.O.,Hammer R.E.,Hamra F.K.,Matern S.,Russell D.W.

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.

J. Clin. Invest.

116

2985-2994

2006

802010

Boot R.G.,Verhoek M.,Donker-Koopman W.,Strijland A.,van Marle J.,Overkleeft H.S.,Wennekes T.,Aerts J.M.F.G.

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.

J. Biol. Chem.

282

1305-1312

2007

802011

Akiyama H.,Ide M.,Nagatsuka Y.,Sayano T.,Nakanishi E.,Uemura N.,Yuyama K.,Yamaguchi Y.,Kamiguchi H.,Takahashi R.,Aerts J.M.F.G.,Greimel P.,Hirabayashi Y.

Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol.

J. Biol. Chem.

295

5257-5277

2020

802012

Martin E.,Schuele R.,Smets K.,Rastetter A.,Boukhris A.,Loureiro J.L.,Gonzalez M.A.,Mundwiller E.,Deconinck T.,Wessner M.,Jornea L.,Oteyza A.C.,Durr A.,Martin J.J.,Schoels L.,Mhiri C.,Lamari F.,Zuechner S.,De Jonghe P.,Kabashi E.,Brice A.,Stevanin G.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Am. J. Hum. Genet.

92

238-244

2013

802013

Sultana S.,Reichbauer J.,Schuele R.,Mochel F.,Synofzik M.,van der Spoel A.C.

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Biochem. Biophys. Res. Commun.

465

35-40

2015

802014

Hammer M.B.,Eleuch-Fayache G.,Schottlaender L.V.,Nehdi H.,Gibbs J.R.,Arepalli S.K.,Chong S.B.,Hernandez D.G.,Sailer A.,Liu G.,Mistry P.K.,Cai H.,Shrader G.,Sassi C.,Bouhlal Y.,Houlden H.,Hentati F.,Amouri R.,Singleton A.B.

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

Am. J. Hum. Genet.

92

245-251

2013

802015

Votsi C.,Zamba-Papanicolaou E.,Middleton L.T.,Pantzaris M.,Christodoulou K.

A novel GBA2 gene missense mutation in spastic ataxia.

Ann. Hum. Genet.

78

13-22

2014

802016

Malekkou A.,Samarani M.,Drousiotou A.,Votsi C.,Sonnino S.,Pantzaris M.,Chiricozzi E.,Zamba-Papanicolaou E.,Aureli M.,Loberto N.,Christodoulou K.

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

Int. J. Mol. Sci.

19

0-0

2018